Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]
Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F +14 more
core +1 more source
The role of pharmacokinetics/pharmacodynamics in setting clinical MIC breakpoints: the EUCAST approach [PDF]
Clinical breakpoints are used in clinical microbiology laboratories to categorize microorganisms as clinically susceptible (S), intermediate (I) or resistant (R) dependent on the quantitative antimicrobial susceptibility as indicated by the MIC value determined in a well-defined standard test system. The laboratory report, with the designations of S, I
Mouton, J.W. +10 more
openaire +3 more sources
Evaluation of urine concentrations of amoxicillin and clavulanate in cats
Background To characterize urinary isolates, the Clinical and Laboratory Standards Institute (CLSI) uses an amoxicillin breakpoint for cats based on plasma (not urine) drug concentrations (≤0.25 μg/mL), but a urine‐specific breakpoint for dogs exists (≤8
Kate KuKanich +4 more
doaj +1 more source
p185(BCR/ABL) has a lower sensitivity than p210(BCR/ABL) to the allosteric inhibitor GNF-2 in Philadelphia chromosome-positive acute lymphatic leukemia [PDF]
Background: The t(9;22) translocation leads to the formation of the chimeric breakpoint cluster region/c-abl oncogene 1 (BCR/ABL) fusion gene on der22, the Philadelphia chromosome.
Mahajna, Jamal +5 more
core +2 more sources
Non-linear absorption pharmacokinetics of amoxicillin: consequences for dosing regimens and clinical breakpoints [PDF]
To describe the population pharmacokinetics of oral amoxicillin and to compare the PTA of current dosing regimens.Two groups, each with 14 healthy male volunteers, received oral amoxicillin/clavulanic acid tablets on two separate days 1 week apart. One group received 875/125 mg twice daily and 500/125 mg three times daily and the other group 500/125 mg
de Velde +5 more
openaire +3 more sources
A novel three-colour fluorescence in situ hybridization approach for the detection of t(7;12)(q36;p13) in acute myeloid leukaemia reveals new cryptic three way translocation t(7;12;16) [PDF]
© 2013 by the authors; licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/3.0/).The t(7;12)(q36;p13 ...
Abdulbasit Naiel +14 more
core +2 more sources
Antifungal Breakpoints of Non-albicans Candida Clinical Isolates in Vitek-2 Compact
Sir, The incidence and diversity of infections caused by non-albicans Candida species (NAC) have shown a substantial increase in recent years. Given the growing number of susceptible patients with compromised immunity as a consequence of HIV infection, cancer chemotherapy and transplantation associated immunosuppression, NAC has emerged as an ...
Arunava Kali +2 more
openaire +3 more sources
Background. The 15q11.1-13.1 duplication, also known as Dup15q syndrome, is a rare congenital disease affecting 1 in 30,000 to 1 in 60,000 children worldwide.
Esteban Ortiz-Prado +11 more
doaj +1 more source
Inflammatory cytokines and biofilm production sustain Staphylococcus aureus outgrowth and persistence: A pivotal interplay in the pathogenesis of Atopic Dermatitis [PDF]
Individuals with Atopic dermatitis (AD) are highly susceptible to Staphylococcus aureus colonization. However, the mechanisms driving this process as well as the impact of S. aureus in AD pathogenesis are still incompletely understood.
A Matlow +88 more
core +1 more source
Pre-Use Susceptibility to Ceftaroline in Clinical Staphylococcus aureus Isolates from Germany: Is There a Non-Susceptible Pool to be Selected? [PDF]
Ceftaroline is a new cephalosporin active against Methicillin-resistant Staphylococcus aureus (MRSA). Based on a representative collection of clinical S.
Birgit Strommenger +3 more
doaj +1 more source

